Spontaneous Contraction of Leukodermic Patches in Waardenburg Syndrome

Abstract

Waardenburg Syndrome is an autosomal dominantly inherited disorder with variable penetrance. It is a rare disorder with an estimated frequency of 1:20,000 in Kenya (East Africa) and 1:40,000, in the Netherlands presenting with or without deafness. The frequency with deafness is lower, estimated at 1:50,000 to 1:212,000. The major characteristic features are as follows, with reported incidences in parenthesis: 1) Dystopia canthorum (99%); 2) synophrys (17%-69%); 3) broad nasal root (78%); 4) depigmentation of hair, skin, or both (17%-58% with white forelock); 5) heterochromic or hypochromic irides (greater than 20%); 6) congenital deafness (9%-38%). Genetic heterogeneity has led to classification of affected families as type I, with dystopia canthorum, or type II, without dystopia canthorum (2, 6). Piebaldism and Woolf's Syndrome can present with pigmentary changes which are similar to Waardenburg Syndrome. Woolf's Syndrome also includes deafness. However, the distinguishing structural ophthomologic abnormalities of dystopia canthorum, broad nasal root, and synophrys are not found in either piebaldism or Woolf's Syndrome. The congenital patterns of leukoderma in both piebaldism and Waardenburg Syndrome has been believed to be stable throughout the lifetime of the affected individuals. We report an otherwise typical family with Waardenburg Syndrome, type I, in which 2 members atypically demonstrate spontaneous pigmentation and contraction of congenital leukodermic patches. To our knowledge, this has not been previously reported in Waardenburg Syndrome.